Concepedia

Common founder effect of rapsyn N88K studied using intragenic markers

Vanessa Dunne, Ricardo A. Maselli

Journal of Human Genetics · 2004 · 11 citations · 9 references

DOI

Concepts

References

9

Failure of postsynaptic specialization to develop at neuromuscular junctions of rapsyn-deficient mice

Medha Gautam, Peter G. Noakes, Jacqueline L. Mudd et al. · Nature · 1995 · 541 citations

, , +16

Rapsyn Mutations in Humans Cause Endplate Acetylcholine-Receptor Deficiency and Myasthenic Syndrome

Kinji Ohno, Andrew G. Engel, Xin‐Ming Shen et al. · The American Journal of Human Genetics · 2002 · 238 citations · Full text

, , +16

Rapsyn mutations in hereditary myasthenia

Georgina Burke, Judith Cossins, Susan Maxwell et al. · Neurology · 2003 · 144 citations

, , +15

Distinct phenotypes of mutant mice lacking agrin, MuSK, or rapsyn

Medha Gautam, Thomas M. DeChiara, David J. Glass et al. · Developmental Brain Research · 1999 · 94 citations

, , +9

E-box mutations in the RAPSN promoter region in eight cases with congenital myasthenic syndrome

Kinji Ohno · Human Molecular Genetics · 2003 · 94 citations · Full text

, , +13